Abstract
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are autosomal dominant peripheral neuropathies caused by copynumber variation of the PMP22 gene. The clinical variability of these disorders is wide, between as well as within families. This variability suggests the presence of modifiers. We previously identified cases of double trouble (the presence of two mutations in CMT-related genes) in severely affected patients, i.e. known CMT genes can act as modifiers.
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